FAIR FOR RARE: Morgan's Story

When I was 19 years old, I started going blind in my right eye and a bunch of tests led to a diagnosis of multiple sclerosis (MS). I was started on treatment straight away but I couldn't tolerate it!

My reactions to the MS drugs have included lymphopenia, thrombocytopenia, neutropenia and interstitial lung disease. Over the past few years, I have also been diagnosed with lymphocytic colitis (a rare form of inflammatory bowel disease) and common variable immunodeficiency (which is rare despite the name!).

Thanks to my immunodeficiency, I have developed melanoma and two forms of pre-cancer. I spent almost two months in hospital in 2017 with severe neutropenia and none of my doctors knew what to do with me or if I would ever recover.

Luckily, I did! But importantly, this episode led to a research institute in Melbourne agreeing to sequence my exome.

They found a mutation with my CTLA-4 gene, a gene that is responsible for regulating the immune system and paradoxically, if faulty, leads to both severe autoimmunity and immunodeficiency.

Luckily, there is a synthetic version of CTLA-4 they can give me, however, this plan has been complicated by the fact that my melanoma has recently metastasized, and my doctors are unsure whether this drug will cause the cancer to spread further.

Luckily, the majority of the time, I feel fine and have the same physical capabilities as any other person. However, my gruelling schedule in terms of medical appointments makes employment difficult (particularly at the moment as I navigate cancer on top of all my other issues). And as with any chronic illness, without wanting to be, I am not always the most reliable person because I can't predict how my body will feel on any given day.

Nobody in my life would doubt that I am sick, but having a rare illness that people haven't heard of means it is difficult for others to understand. Needless to say, it also makes treatment and getting the right help a lot more complicated. The drug that contains a synthetic version of CTLA-4 is only on the PBS for people with rheumatoid arthritis, and it has taken time and a very dedicated immunologist to get the drug available for me under compassionate use.

Further research into genetic mutations and how to correct them, and easier access to off-label medication would help to improve my quality of life. The medication I could be taking to treat each disease that my CTLA-4 mutation has caused, would cost the Government more than the cost of the synthetic CTLA-4 that we hope might help resolve all of my problems.

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About Rare Voices Australia

Rare Voices Australia (RVA) is a national, not-for-profit organisation established in 2012 with a vision to be ‘the unified voice for ALL Australians living with a rare disease’.
RVA is Australia’s national alliance advocating for those who live with a rare disease.
RVA provides a strong common voice to promote health policy and a healthcare system that works for those with rare diseases.